A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309843



Internal ID15156794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044587..105044588hg38UCSC Ensembl
Innerchr12:105044570..105044605hg38UCSC Ensembl
Outerchr12:105044569..105044606hg38UCSC Ensembl
chr12:105438365..105438366hg19UCSC Ensembl
Innerchr12:105438348..105438383hg19UCSC Ensembl
Outerchr12:105438347..105438384hg19UCSC Ensembl
chr12:103962495..103962496hg18UCSC Ensembl
Innerchr12:103962513..103962478hg18UCSC Ensembl
Outerchr12:103962477..103962514hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840256, essv7843165, essv7842181, essv7841235, essv7842692, essv7840805
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesALDH1L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309843
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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